A novel mutation in the mitochondrial tRNA Phe gene associated with mitochondrial myopathy

By Moslemi A.-R.   Lindberg C.   Toft J.   Holme E.   Kollberg G.   Oldfors A.  

Neuromuscular Disorders, Vol. 14, Iss. 1, 2004-01 ,pp. : 46-50

Elsevier

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Adult onset multi/minicore myopathy associated with a mutation in the RYR1 gene

By Pietrini Vladimiro   Marbini Adriana   Galli Lucia   Sorrentino Vincenzo  

Journal of Neurology, Vol. 251, Iss. 1, 2004-01 ,pp. : 102-104

Springer Publishing Company

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Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn)

By Schröder J.   Durling H.   Laing N.  

Acta Neuropathologica, Vol. 108, Iss. 3, 2004-09 ,pp. : 250-256

Springer Publishing Company

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A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation

By Krause S.   Schlotter-Weigel B.   Walter M.C.   Najmabadi H.   Wiendl H.   Muller-Hocker J.   Muller-Felber W.   Pongratz D.   Lochmuller H.  

Neuromuscular Disorders, Vol. 13, Iss. 10, 2003-12 ,pp. : 830-834

Elsevier

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Recurrent K3E mutation in Cu/Zn superoxide dismutase gene associated with amyotrophic lateral sclerosis

By Kuźma-Kozakiewicz Magdalena   Berdyński Mariusz   Morita Mitsuya   Takahashi Yuji   Kawata Akihiro   Kaida Ken-Ichi   Kaźmierczak Beata   Łusakowska Anna   Goto Jun   Tsuji Shoji   Żekanowski Cezary   Kwieciński Hubert  

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Vol. 14, Iss. 7-8, 2013-12 ,pp. : 608-614

Informa Healthcare

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